SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disorder whose patients present mutations in two ribosome assembly proteins, the Shwachman-Bodian-Diamond Syndrome protein (SBDS) and the Elongation Factor-Like 1 (EFL1). 31838967 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 Biomarker disease BEFREE One of the final maturation steps of the large ribosomal subunit requires the joint action of the elongation factor-like 1 (human EFL1, yeast Efl1) GTPase and the Shwachman-Diamond syndrome protein (human SBDS, yeast Sdo1) to release the eukaryotic translation initiation factor 6 (human eIF6, yeast Tif6) and allow the assembly of mature ribosomes. 30780079 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 Biomarker disease BEFREE The SBDS protein participates in ribosome biogenesis; however, effects beyond reduced translation efficiency are thought to be involved in SDS progression. 30938873 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE Shwachman-Diamond Syndrome (SDS) is a rare and clinically-heterogeneous bone marrow (BM) failure syndrome caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. 31211692 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. 30413969 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 Biomarker disease BEFREE Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells. 29285795 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE The mutation of Shwachman-Bodian-Diamond syndrome (SBDS) gene has been proposed to be a major causative reason for SDS. 29444436 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 CausalMutation disease CLINVAR Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. 29753700 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE The Shwachman-Diamond Syndrome (SDS) is a disorder arising from mutations in the genes encoding for the Shwachman-Bodian-Diamond Syndrome (SBDS) protein and the GTPase known as Elongation Factor Like-1 (EFL1). 30545121 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 CausalMutation disease CLINVAR Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia. 29375851 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction.Mutations in the SBDS gene cause SDS. 27553422 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. 28972538 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE In young adults, 4% of the patients had compound heterozygous mutations in the Shwachman-Diamond syndrome-associated SBDS gene with concurrent TP53 mutations and a poor prognosis. 28177873 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). 27146429 2016
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 Biomarker disease BEFREE The SBDS protein is important for ribosome maturation and therefore SDS belongs to the ribosomopathies. 26762974 2016
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 CausalMutation disease CLINVAR Shwachman-Diamond syndrome (SDS) in a preterm neonate. 26081292 2015
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 Biomarker disease BEFREE Shwachman-Bodian-Diamond syndrome is caused by loss of function of SBDS protein. 25252159 2015
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 CausalMutation disease CLINVAR Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis. 25729736 2015
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 CausalMutation disease CLINVAR Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. 25844324 2015
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE Removal of anti-association factor, Tif6 (eIF6), by elongation factor-like 1 (EFL1) and Shwachman-Bodian-Diamond syndrome (SBDS) protein is a critical step in the late stage of ribosome maturation. 24406167 2014
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 GeneticVariation disease BEFREE Whole exome sequencing was performed in a patient with SDS lacking biallelic SBDS point mutations. 24898207 2014
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 CausalMutation disease CLINVAR Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. 24898207 2014
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 CausalMutation disease CLINVAR Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 24629175 2014
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
1.000 CausalMutation disease CLINVAR Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 24388329 2014